ClinVar Miner

List of variants in gene PTEN reported as likely benign for PTEN hamartoma tumor syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP
NM_000314.7(PTEN):c.*1131del rs547262170
NM_000314.7(PTEN):c.*1745G>A rs116248217
NM_000314.7(PTEN):c.*421T>C rs141648241
NM_000314.7(PTEN):c.*601A>G rs371547288
NM_000314.7(PTEN):c.*666dup rs543873570
NM_000314.7(PTEN):c.-499_-497GGC[6] rs1237307954
NM_000314.7(PTEN):c.-533G>T rs886047385
NM_000314.7(PTEN):c.-674C>T rs876661258
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.-801G>A rs876661166
NM_000314.7(PTEN):c.-909T>C rs550385924
NM_000314.7(PTEN):c.1011T>C (p.Phe337=) rs876659916
NM_000314.7(PTEN):c.1017A>G (p.Pro339=) rs1554825644
NM_000314.7(PTEN):c.1026+10A>G rs767777911
NM_000314.7(PTEN):c.1026+9A>C rs1554825657
NM_000314.7(PTEN):c.1050A>G (p.Thr350=) rs769324650
NM_000314.7(PTEN):c.1062G>A (p.Pro354=) rs786202751
NM_000314.7(PTEN):c.1089T>C (p.Thr363=) rs864622690
NM_000314.7(PTEN):c.1092T>G (p.Ser364=) rs1355576298
NM_000314.7(PTEN):c.1104T>C (p.Asp368=) rs35979531
NM_000314.7(PTEN):c.1107T>C (p.Val369=) rs1554826048
NM_000314.7(PTEN):c.1116T>C (p.Asn372=) rs1060503845
NM_000314.7(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.7(PTEN):c.1188G>A (p.Gln396=) rs786202062
NM_000314.7(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.1203A>G (p.Thr401=) rs876659102
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.165-7T>C rs572375431
NM_000314.7(PTEN):c.165-8_165-4del rs760571273
NM_000314.7(PTEN):c.174T>C (p.Asp58=) rs769719835
NM_000314.7(PTEN):c.177A>G (p.Ser59=) rs878853935
NM_000314.7(PTEN):c.180G>A (p.Lys60=) rs972166984
NM_000314.7(PTEN):c.18A>G (p.Lys6=) rs876660391
NM_000314.7(PTEN):c.204C>T (p.Tyr68=) rs773176120
NM_000314.7(PTEN):c.209+9_209+10delinsCC rs1060503841
NM_000314.7(PTEN):c.210-12C>T rs766570103
NM_000314.7(PTEN):c.210-17T>C rs750987148
NM_000314.7(PTEN):c.210-26A>G rs776849737
NM_000314.7(PTEN):c.210-26A>T rs776849737
NM_000314.7(PTEN):c.210-9T>C rs751744545
NM_000314.7(PTEN):c.216T>C (p.Ala72=) rs1057520862
NM_000314.7(PTEN):c.222A>G (p.Arg74=) rs781542973
NM_000314.7(PTEN):c.254-10T>C rs1554898047
NM_000314.7(PTEN):c.254-39G>T rs35034871
NM_000314.7(PTEN):c.254-6C>T rs1057520525
NM_000314.7(PTEN):c.254-7dup rs1060503846
NM_000314.7(PTEN):c.258A>G (p.Ala86=) rs587780710
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.288A>G (p.Pro96=) rs746661067
NM_000314.7(PTEN):c.294A>G (p.Leu98=) rs770224289
NM_000314.7(PTEN):c.321T>C (p.Asp107=) rs372876243
NM_000314.7(PTEN):c.330A>G (p.Gln110=) rs786201929
NM_000314.7(PTEN):c.360A>C (p.Ala120=) rs759485888
NM_000314.7(PTEN):c.411A>G (p.Ala137=) rs144545031
NM_000314.7(PTEN):c.444A>C (p.Ala148=) rs778663292
NM_000314.7(PTEN):c.456A>G (p.Leu152=) rs779626613
NM_000314.7(PTEN):c.48T>C (p.Tyr16=) rs587782187
NM_000314.7(PTEN):c.492+7T>G rs373077590
NM_000314.7(PTEN):c.493-12dup rs756623620
NM_000314.7(PTEN):c.493-6C>T rs1554900496
NM_000314.7(PTEN):c.493-9G>T rs1554900490
NM_000314.7(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.7(PTEN):c.525G>C (p.Val175=) rs1554900563
NM_000314.7(PTEN):c.534T>C (p.Tyr178=) rs104894184
NM_000314.7(PTEN):c.54G>A (p.Glu18=) rs1554890388
NM_000314.7(PTEN):c.576A>G (p.Ala192=) rs1554900619
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.579G>T (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.585T>C (p.Phe195=) rs1554900624
NM_000314.7(PTEN):c.624C>T (p.Gly208=) rs370162160
NM_000314.7(PTEN):c.635-16G>A rs750772657
NM_000314.7(PTEN):c.635-6A>G rs1009588340
NM_000314.7(PTEN):c.651C>T (p.Val217=) rs886038278
NM_000314.7(PTEN):c.660A>C (p.Leu220=) rs1352585442
NM_000314.7(PTEN):c.681C>T (p.Ser227=) rs768662424
NM_000314.7(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.723T>C (p.Phe241=) rs17849090
NM_000314.7(PTEN):c.72C>T (p.Asp24=) rs1320222638
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.750T>C (p.Cys250=) rs767623493
NM_000314.7(PTEN):c.753T>A (p.Gly251=) rs1554825232
NM_000314.7(PTEN):c.759C>A (p.Ile253=) rs752250585
NM_000314.7(PTEN):c.759C>T (p.Ile253=) rs752250585
NM_000314.7(PTEN):c.75G>A (p.Leu25=) rs786201506
NM_000314.7(PTEN):c.783G>A (p.Gln261=) rs760146269
NM_000314.7(PTEN):c.79+7A>G rs374331677
NM_000314.7(PTEN):c.79+7A>T rs374331677
NM_000314.7(PTEN):c.795A>C (p.Leu265=) rs891648600
NM_000314.7(PTEN):c.80-5C>T rs1060503842
NM_000314.7(PTEN):c.801+23G>A rs116160352
NM_000314.7(PTEN):c.801+7A>T rs1211730867
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.801+9T>C rs1060503839
NM_000314.7(PTEN):c.802-12T>C rs587781129
NM_000314.7(PTEN):c.802-54_802-16del rs1028746954
NM_000314.7(PTEN):c.802-9T>G rs1057520354
NM_000314.7(PTEN):c.816C>T (p.His272=) rs876659761
NM_000314.7(PTEN):c.819T>C (p.Phe273=) rs876658729
NM_000314.7(PTEN):c.828T>C (p.Asn276=) rs1554825510
NM_000314.7(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.7(PTEN):c.855A>G (p.Glu285=) rs751888926
NM_000314.7(PTEN):c.858C>G (p.Thr286=) rs876660443
NM_000314.7(PTEN):c.870A>G (p.Val290=) rs529155918
NM_000314.7(PTEN):c.879A>C (p.Gly293=) rs1060503843
NM_000314.7(PTEN):c.885A>G (p.Leu295=) rs587780713
NM_000314.7(PTEN):c.900C>T (p.Ile300=) rs550122918
NM_000314.7(PTEN):c.909T>A (p.Ile303=) rs878853945
NM_000314.7(PTEN):c.939G>A (p.Lys313=) rs562164491
NM_000314.7(PTEN):c.966A>G (p.Lys322=) rs786201392
NM_000314.7(PTEN):c.981A>G (p.Lys327=) rs772872626
NM_000314.8(PTEN):c.*3448_*3463dup rs763859619
NM_000314.8(PTEN):c.*3449_*3463dup rs763859619
NM_000314.8(PTEN):c.-280C>T rs571072832
NM_000314.8(PTEN):c.1005A>T (p.Arg335=) rs1303065649
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.209+84G>A rs185262832
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.254-34T>G rs34047313
NM_000314.8(PTEN):c.384G>A (p.Lys128=) rs1114167645
NM_000314.8(PTEN):c.480C>T (p.Thr160=) rs746574957
NM_000314.8(PTEN):c.492+31T>C rs1320105617
NM_000314.8(PTEN):c.492+7T>C rs373077590
NM_000314.8(PTEN):c.493-27G>T rs1589659262
NM_000314.8(PTEN):c.612A>G (p.Pro204=) rs539074063
NM_000314.8(PTEN):c.634+9T>C rs1589659798
NM_000314.8(PTEN):c.635-10A>G rs1430432370
NM_000314.8(PTEN):c.678C>G (p.Ser226=) rs1589663262
NM_000314.8(PTEN):c.699A>G (p.Arg233=) rs1589663321
NM_000314.8(PTEN):c.708C>T (p.Asp236=) rs1183182915
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.802-34C>A rs531071483
NM_000314.8(PTEN):c.802-5_802-3dup rs34003473

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